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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:autosomal recessive limb-girdle muscular dystrophy type 2Y
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Accession:DOID:0110289 term browser browse the term
Definition:An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24. (DO)
Synonyms:exact_synonym: LGMD2Y;   MRRSDC;   autosomal recessive muscular dystrophy due to LAP1B deficiency;   autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency;   autosomal recessive myopathy with rigid spine and distal joint contractures;   limb-girdle muscular dystrophy type 2Y;   muscular dystrophy with progressive weakness, distal contractures and rigid spine
 primary_id: OMIM:617072
 xref: ORDO:424261
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive limb-girdle muscular dystrophy type 2Y term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tor1aip1 torsin 1A interacting protein 1 ISO ClinVar Annotator: match by OMIM:617072
ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2y
ClinVar
OMIM
PMID:4856141 PMID:9536098 PMID:17576681 PMID:24856141 PMID:25193337 PMID:25741868 PMID:27342937 PMID:28492532 NCBI chr13:73,670,649...73,704,668
Ensembl chr13:73,670,141...73,704,678
JBrowse link
G Tor1aip2 torsin 1A interacting protein 2 ISO ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 2y ClinVar PMID:24856141 PMID:25193337 NCBI chr13:73,704,088...73,735,339
Ensembl chr13:73,708,815...73,735,339
Ensembl chr13:73,708,815...73,735,339
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8399
          monogenic disease 6338
            autosomal genetic disease 5493
              autosomal recessive disease 3229
                autosomal recessive limb-girdle muscular dystrophy 106
                  autosomal recessive limb-girdle muscular dystrophy type 2Y 2
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        peripheral nervous system disease 2421
          neuropathy 2233
            neuromuscular disease 1780
              muscular disease 1191
                muscle tissue disease 814
                  myopathy 650
                    muscular dystrophy 315
                      limb-girdle muscular dystrophy 147
                        autosomal recessive limb-girdle muscular dystrophy 106
                          autosomal recessive limb-girdle muscular dystrophy type 2Y 2
paths to the root